Management of Turner's syndrome in adult life: case-series and systematic review

Objective: To assess the symptoms and outcomes of clinical management in adult patients with Turner's Syndrome. Design: Retrospective case-series and systematic review of the literature. Setting: Gynaecological Endocrinology Unit in a teaching hospital. Patients: Patients followed in the Gynaecological Endocrinology Unit. Interventions: Review of medical records and a computer search via several databases to identify journals relevant to the subject were performed. Main outcome measures: Final height, weight, previous treatments with growth hormone, cardiac or renal malformations, metabolic profile, and additional treatment for osteoporosis. Results: Thirty-one patients were analysed. Differences in final height were found between groups with monosomy and other karyotypes. Four patients bore congenital cardiac malformations, and six, renal congenital malformations. Nine patients had a previous diagnosis of hypercholesterolemia. The most abnormal hepatic parameter was GGT, with fifteen patients having values over the normality limit. Ten patients were receiving treatment for osteopenia or osteoporosis. Conclusions: This case-series provides recommendations for the management of adult patients with Turner's syndrome and insight into the different medical complaints of this syndrome. A link between karyotypes and clinical features suggests a novel hypothesis to explain the different phenotypes and clinical abnormalities of these patients.